Manchester University NHS Foundation Trust
151 capabilities
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North West Genomic Laboratory Hub (Manchester) and Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, St Mary's Hospital, Oxford Road
Manchester M13 9WL , United Kingdom
Manchester M13 9WL , United Kingdom
Accreditation
Active
UKAS
9865
mft.nhs.uk
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Accreditation Details
Accreditation Body
UKAS
Number
9865
Status
ActiveAccreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official UKAS records.
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Test Capabilities (151)
| Standard Reference | Description | Category |
|---|---|---|
| Blood spot Amino acid quantitation | DOC4348 | Blood spot Amino acid quantitation | DOC4348 | Clinical Chemistry |
| Blood, bile, plasma, serum, urine Acyl carnitines and free carnitine | Quattro LC TMS and DOC666 | Blood, bile, plasma, serum, urine Acyl carnitines and free carnitine | Quattro LC TMS and DOC666 | Clinical Chemistry |
| Erythrocytes Plasmalogens | DOC645 | Erythrocytes Plasmalogens | DOC645 | Clinical Chemistry |
| Plasma Cholestanol | DOC647 | Plasma Cholestanol | DOC647 | Clinical Chemistry |
| Plasma Oxysterol | DOC2378 | Plasma Oxysterol | DOC2378 | Clinical Chemistry |
| Plasma Total homocysteine | DOC652 | Plasma Total homocysteine | DOC652 | Clinical Chemistry |
| Plasma, serum Biotinidase | DOC2365 | Plasma, serum Biotinidase | DOC2365 | Clinical Chemistry |
| Plasma, serum Phytanic acid and Pristanic acid | DOC644 | Plasma, serum Phytanic acid and Pristanic acid | DOC644 | Clinical Chemistry |
| Plasma, serum, liver, spleen, 7-dehydrocholesterol | DOC647 | Plasma, serum, liver, spleen, 7-dehydrocholesterol | DOC647 | Clinical Chemistry |
| Plasma, urine, CSF Amino acid quantitation | 30+ and DOC1195 | Plasma, urine, CSF Amino acid quantitation | 30+ and DOC1195 | Clinical Chemistry |
| Urine Organic acids | DOC688. | Urine Organic acids | DOC688. | Clinical Chemistry |
| Urine Quantitative detection of Creatinine | DOC4132 | Urine Quantitative detection of Creatinine | DOC4132 | Clinical Chemistry |
| Urine, amniotic fluid Mucopolysaccharide urine screen | (DOC558). | Urine, amniotic fluid Mucopolysaccharide urine screen | (DOC558). | Clinical Chemistry |
| Very long chain fatty acids | DOC646 | Very long chain fatty acids | DOC646 | Clinical Chemistry |
| Detection of the following: | Special Staining using in house | Detection of the following: | Special Staining using in house | Histopathology / Cytology |
| (Sandhoff's disease) | DOC565 | (Sandhoff's disease) | DOC565 | Molecular Diagnostics / PCR |
| Alpha globin gene cluster deletions | 3500XL genetic analyser LP 000 | Alpha globin gene cluster deletions | 3500XL genetic analyser LP 000 | Molecular Diagnostics / PCR |
| B and T cell Clonality (Ig, TCR) | DOC4866 | B and T cell Clonality (Ig, TCR) | DOC4866 | Molecular Diagnostics / PCR |
| B/ Galactosialidosis | DOC572 | B/ Galactosialidosis | DOC572 | Molecular Diagnostics / PCR |
| B/ Galactosialidosis | DOC591, DOC571, DOC602 | B/ Galactosialidosis | DOC591, DOC571, DOC602 | Molecular Diagnostics / PCR |
| Beta globin gene cluster deletions | 162, analysed using Coffalyser Net | Beta globin gene cluster deletions | 162, analysed using Coffalyser Net | Molecular Diagnostics / PCR |
| Beta globin gene cluster deletions | DOC4432 | Beta globin gene cluster deletions | DOC4432 | Molecular Diagnostics / PCR |
| Blood Angelman/ Prader-Willi Syndrome | 000 054 | Blood Angelman/ Prader-Willi Syndrome | 000 054 | Molecular Diagnostics / PCR |
| Blood Angelman/ Prader-Willi Syndrome | Methylation sensitive PCR, LP 000 | Blood Angelman/ Prader-Willi Syndrome | Methylation sensitive PCR, LP 000 | Molecular Diagnostics / PCR |
| Blood, AF, CVS Fragile X Syndrome and associated | 000 061, DOC1174 | Blood, AF, CVS Fragile X Syndrome and associated | 000 061, DOC1174 | Molecular Diagnostics / PCR |
| Blood, AF, CVS Fragile X Syndrome and associated | ARMS PCR, LP 000 238 DOC4873 | Blood, AF, CVS Fragile X Syndrome and associated | ARMS PCR, LP 000 238 DOC4873 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | (Perkin Elmer). DOC4355 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | (Perkin Elmer). DOC4355 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | , LP400 002 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | , LP400 002 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | 907, 908, 913 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | 907, 908, 913 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | COBAS FFPE extraction. DOC1300 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | COBAS FFPE extraction. DOC1300 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DNA dilutions DOC752 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DNA dilutions DOC752 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2000 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2000 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2356, DropSense DOC2828. | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2356, DropSense DOC2828. | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2637 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | DOC2637 | Molecular Diagnostics / PCR |
| Blood, mouthwashes, AF, CVS, DNA extraction and quality check | Nanodrop LP 000 230, Qubit 2.0 | Blood, mouthwashes, AF, CVS, DNA extraction and quality check | Nanodrop LP 000 230, Qubit 2.0 | Molecular Diagnostics / PCR |
| Cancer screening for somatic | MiSeq, NextSeq DOC3338 | Cancer screening for somatic | MiSeq, NextSeq DOC3338 | Molecular Diagnostics / PCR |
| Cardiac disorders gene panels: | NextSeq, DOC 4945 | Cardiac disorders gene panels: | NextSeq, DOC 4945 | Molecular Diagnostics / PCR |
| Colorectal cancer - tissue samples | MiSeq, NextSeq DOC3339 | Colorectal cancer - tissue samples | MiSeq, NextSeq DOC3339 | Molecular Diagnostics / PCR |
| Colorectal cancer - tumour samples | DOC1185 * | Colorectal cancer - tumour samples | DOC1185 * | Molecular Diagnostics / PCR |
| Colorectal cancer - tumour samples | MiSeq, NextSeq DOC5682 | Colorectal cancer - tumour samples | MiSeq, NextSeq DOC5682 | Molecular Diagnostics / PCR |
| Copy Number Variations (CNVs) | 2608, 3087, , 3210 | Copy Number Variations (CNVs) | 2608, 3087, , 3210 | Molecular Diagnostics / PCR |
| DNA from FFPE tissue sections, Breast and Ovarian Cancer | DOC3340 DOC5719 | DNA from FFPE tissue sections, Breast and Ovarian Cancer | DOC3340 DOC5719 | Molecular Diagnostics / PCR |
| DNA from FFPE tissue sections, Homologous recombination | DOC4888 | DNA from FFPE tissue sections, Homologous recombination | DOC4888 | Molecular Diagnostics / PCR |
| DNA from FFPE tissue sections, Quantitative detection of clinically | Droplet PCR using Biorad QX200 | DNA from FFPE tissue sections, Quantitative detection of clinically | Droplet PCR using Biorad QX200 | Molecular Diagnostics / PCR |
| DNA from FFPE tissue sections, Quantitative detection of clinically | Real time PCR using Cobas Z 480* | DNA from FFPE tissue sections, Quantitative detection of clinically | Real time PCR using Cobas Z 480* | Molecular Diagnostics / PCR |
| DNA from blood Angelman Syndrome/ Prader-Willi | LP 000 054 | DNA from blood Angelman Syndrome/ Prader-Willi | LP 000 054 | Molecular Diagnostics / PCR |
| DNA from blood Graft v Host determination following | LP500 001, 003, 005, 008 | DNA from blood Graft v Host determination following | LP500 001, 003, 005, 008 | Molecular Diagnostics / PCR |
| DNA from blood Identity testing | LP500 001, 003, 005, 008 | DNA from blood Identity testing | LP500 001, 003, 005, 008 | Molecular Diagnostics / PCR |
| DNA from blood or FFPE tissue Detection of clinical relevant nucleic | DOC1585, LP 000 236 | DNA from blood or FFPE tissue Detection of clinical relevant nucleic | DOC1585, LP 000 236 | Molecular Diagnostics / PCR |
| DNA from blood or FFPE tissue Detection of clinical relevant nucleic | Thermal Cyclers and ABI3730XL | DNA from blood or FFPE tissue Detection of clinical relevant nucleic | Thermal Cyclers and ABI3730XL | Molecular Diagnostics / PCR |
| DNA from blood or FFPE tissue Neurofibromatosis type 2 (NF2) | MiSeq, LP 000 069 | DNA from blood or FFPE tissue Neurofibromatosis type 2 (NF2) | MiSeq, LP 000 069 | Molecular Diagnostics / PCR |
| DNA from blood or bone marrow Detection of mutations in the | Biosystems AB 3500XL genetic | DNA from blood or bone marrow Detection of mutations in the | Biosystems AB 3500XL genetic | Molecular Diagnostics / PCR |
| DNA from blood, AF, CVS Possible X-linked Retinitis | DOC2245 | DNA from blood, AF, CVS Possible X-linked Retinitis | DOC2245 | Molecular Diagnostics / PCR |
| DNA from blood, AF, CVS, blood MCADD common mutation | LP 000 268 | DNA from blood, AF, CVS, blood MCADD common mutation | LP 000 268 | Molecular Diagnostics / PCR |
| DNA from primary samples Detection of whole or partial gene | DOC4472 , DOC1030, LP 000 162 | DNA from primary samples Detection of whole or partial gene | DOC4472 , DOC1030, LP 000 162 | Molecular Diagnostics / PCR |
| DNA from primary samples Familial Adenomatous Polyposis | DOC4335 | DNA from primary samples Familial Adenomatous Polyposis | DOC4335 | Molecular Diagnostics / PCR |
| DNA from primary samples Mutation detection for the purpose | Cyclers and ABI3730XL | DNA from primary samples Mutation detection for the purpose | Cyclers and ABI3730XL | Molecular Diagnostics / PCR |
| DNA from primary samples Mutation detection for the purpose | DOC1585, LP 000 236 | DNA from primary samples Mutation detection for the purpose | DOC1585, LP 000 236 | Molecular Diagnostics / PCR |
| DNA from primary samples Mutation detection for the purpose | GE- Gel electrophoresis, LP 000 | DNA from primary samples Mutation detection for the purpose | GE- Gel electrophoresis, LP 000 | Molecular Diagnostics / PCR |
| DNA from whole blood, FFPE tissue Neurofibromatosis type 2 (NF2) | LP 000 069 | DNA from whole blood, FFPE tissue Neurofibromatosis type 2 (NF2) | LP 000 069 | Molecular Diagnostics / PCR |
| DNA from whole blood, FFPE tissue Schwannomatosis; Atypical Familial | LP 000 249 | DNA from whole blood, FFPE tissue Schwannomatosis; Atypical Familial | LP 000 249 | Molecular Diagnostics / PCR |
| DNA from: | Cytomegalovirus (CMV) DNA Real-Time PCR using Elitech Elite | DNA from: | Cytomegalovirus (CMV) DNA Real-Time PCR using Elitech Elite | Molecular Diagnostics / PCR |
| DNA or RNA from blood or bone Quantitative monitoring of gene | DOC4458, 5974 | DNA or RNA from blood or bone Quantitative monitoring of gene | DOC4458, 5974 | Molecular Diagnostics / PCR |
| DNA/RNA from blood, lymphocyte Neurofibromatosis type 1 (NF1) | LP 000 250 | DNA/RNA from blood, lymphocyte Neurofibromatosis type 1 (NF1) | LP 000 250 | Molecular Diagnostics / PCR |
| DNA/RNA from blood/melanocytes Neurofibromatosis type 1 (NF1) | MiSeq, LP 000 250 | DNA/RNA from blood/melanocytes Neurofibromatosis type 1 (NF1) | MiSeq, LP 000 250 | Molecular Diagnostics / PCR |
| Detection of F8 intron 1 gene | PCR, DOC4910 DOC4947 | Detection of F8 intron 1 gene | PCR, DOC4910 DOC4947 | Molecular Diagnostics / PCR |
| Determination (cffDNA) | 7900 analyser and LP 000 253 | Determination (cffDNA) | 7900 analyser and LP 000 253 | Molecular Diagnostics / PCR |
| Dry blood spot a-galactosidase (Fabry disease) | DOC594 | Dry blood spot a-galactosidase (Fabry disease) | DOC594 | Molecular Diagnostics / PCR |
| Duchenne and Becker Muscular | LP 000 063 | Duchenne and Becker Muscular | LP 000 063 | Molecular Diagnostics / PCR |
| F5 | DOC1585 | F5 | DOC1585 | Molecular Diagnostics / PCR |
| FFPE RNA extraction and quality check | Isolation kit DOC4754 | FFPE RNA extraction and quality check | Isolation kit DOC4754 | Molecular Diagnostics / PCR |
| FFPE tissue sections, slides or Microsatellite Instability (MSI) | DOC1332 | FFPE tissue sections, slides or Microsatellite Instability (MSI) | DOC1332 | Molecular Diagnostics / PCR |
| FLT3 ITD/TKD | DOC4877 | FLT3 ITD/TKD | DOC4877 | Molecular Diagnostics / PCR |
| FV Leiden | MassArrray DOC4434 | FV Leiden | MassArrray DOC4434 | Molecular Diagnostics / PCR |
| Glioma / CNS cancer panel | MiSeq, NextSeq DOC4253 | Glioma / CNS cancer panel | MiSeq, NextSeq DOC4253 | Molecular Diagnostics / PCR |
| Haematology disorders gene | NextSeq, DOC4947 | Haematology disorders gene | NextSeq, DOC4947 | Molecular Diagnostics / PCR |
| Hearing disorders gene panels | NextSeq, DOC4948 | Hearing disorders gene panels | NextSeq, DOC4948 | Molecular Diagnostics / PCR |
| Immunology disorders gene panels | NextSeq, DOC4949 | Immunology disorders gene panels | NextSeq, DOC4949 | Molecular Diagnostics / PCR |
| Indels | Data Analysis using: BWA | Indels | Data Analysis using: BWA | Molecular Diagnostics / PCR |
| Leucocytes N-acetyl-a-galactosaminidase | DOC566 | Leucocytes N-acetyl-a-galactosaminidase | DOC566 | Molecular Diagnostics / PCR |
| Leucocytes, CVS, cultured cells Galactocerebrosidase | DOC631 | Leucocytes, CVS, cultured cells Galactocerebrosidase | DOC631 | Molecular Diagnostics / PCR |
| Leucocytes, cultured cells Galactocerebrosidase (screen) | DOC579 | Leucocytes, cultured cells Galactocerebrosidase (screen) | DOC579 | Molecular Diagnostics / PCR |
| Lymphocytes, CVS, cultured cells a-glucosidase (Pompe) | DOC560, DOC563 | Lymphocytes, CVS, cultured cells a-glucosidase (Pompe) | DOC560, DOC563 | Molecular Diagnostics / PCR |
| MGMT methylation analysis | DOC3349 | MGMT methylation analysis | DOC3349 | Molecular Diagnostics / PCR |
| MLH1 promoter hypermethylation | Methylation using Qiagen Epitect | MLH1 promoter hypermethylation | Methylation using Qiagen Epitect | Molecular Diagnostics / PCR |
| MLH1 promoter hypermethylation | Plus FFPE Bisulphite kit, DOC869 | MLH1 promoter hypermethylation | Plus FFPE Bisulphite kit, DOC869 | Molecular Diagnostics / PCR |
| Malignant Melanoma - tumour | DOC6047, 1185 | Malignant Melanoma - tumour | DOC6047, 1185 | Molecular Diagnostics / PCR |
| Maternal contamination testing | (Genemapper software). LP500 | Maternal contamination testing | (Genemapper software). LP500 | Molecular Diagnostics / PCR |
| Maternal contamination testing | 001, 003, 005, 008, DOC868 | Maternal contamination testing | 001, 003, 005, 008, DOC868 | Molecular Diagnostics / PCR |
| Meningiomas (SMARCE1) | DOC1590 | Meningiomas (SMARCE1) | DOC1590 | Molecular Diagnostics / PCR |
| Metabolic disorders gene panels: | NextSeq, DOC4950 | Metabolic disorders gene panels: | NextSeq, DOC4950 | Molecular Diagnostics / PCR |
| Mutation detection for the purpose | GE- Gel electrophoresis, LP 000 | Mutation detection for the purpose | GE- Gel electrophoresis, LP 000 | Molecular Diagnostics / PCR |
| NPM1 (Exon 12) | DOC4440 | NPM1 (Exon 12) | DOC4440 | Molecular Diagnostics / PCR |
| Neurology disorders gene panels | NextSeq, DOC4951 | Neurology disorders gene panels | NextSeq, DOC4951 | Molecular Diagnostics / PCR |
| Ophthalmic disorders gene panels: | NextSeq, DOC 4946 | Ophthalmic disorders gene panels: | NextSeq, DOC 4946 | Molecular Diagnostics / PCR |
| PHA stimulated short term RNA extraction and quality check | EZ1 RNA extraction kit DOC992 | PHA stimulated short term RNA extraction and quality check | EZ1 RNA extraction kit DOC992 | Molecular Diagnostics / PCR |
| Plasma Chitotriosidase | DOC576 | Plasma Chitotriosidase | DOC576 | Molecular Diagnostics / PCR |
| Plasma, leucocytes Aspartylglucosaminidase | DOC634 | Plasma, leucocytes Aspartylglucosaminidase | DOC634 | Molecular Diagnostics / PCR |
| Plasma, leucocytes a-galactosidase (Fabry disease) | DOC562 | Plasma, leucocytes a-galactosidase (Fabry disease) | DOC562 | Molecular Diagnostics / PCR |
| RNA from FFPE samples Lung cancer fusion gene panel | DOC4764. | RNA from FFPE samples Lung cancer fusion gene panel | DOC4764. | Molecular Diagnostics / PCR |
| RNA from FFPE samples Lung cancer fusion gene panel | NextSeq 550, MiSeq, DOC5672 | RNA from FFPE samples Lung cancer fusion gene panel | NextSeq 550, MiSeq, DOC5672 | Molecular Diagnostics / PCR |
| RNA from lymphocyte culture Retinoblastoma (RB1) | LP 000 075 | RNA from lymphocyte culture Retinoblastoma (RB1) | LP 000 075 | Molecular Diagnostics / PCR |
| Retinoblastoma (RB1) | LP 000 075 | Retinoblastoma (RB1) | LP 000 075 | Molecular Diagnostics / PCR |
| Retinoblastoma (RB1) | MiSeq, LP 000 075 | Retinoblastoma (RB1) | MiSeq, LP 000 075 | Molecular Diagnostics / PCR |
| Sarcoma and paediatric fusion | Workbench, DOC4775 | Sarcoma and paediatric fusion | Workbench, DOC4775 | Molecular Diagnostics / PCR |
| validated methods | DOC1030, LP 000 162 DOC4616 | validated methods | DOC1030, LP 000 162 DOC4616 | Molecular Diagnostics / PCR |
| validated methods | DOC4304 | validated methods | DOC4304 | Molecular Diagnostics / PCR |
| Beta thalassemia (HBB and HBG2 | DOC4432, DOC1585 | Beta thalassemia (HBB and HBG2 | DOC4432, DOC1585 | Other |
| Beta thalassemia (HBB and HBG2 | DOC4947, DOC1585 | Beta thalassemia (HBB and HBG2 | DOC4947, DOC1585 | Other |
| Blood Angelman/ Prader-Willi Syndrome | Zymo Research, LP 000 087 and | Blood Angelman/ Prader-Willi Syndrome | Zymo Research, LP 000 087 and | Other |
| Breast and Ovarian cancer (BRCA1 | ARMS PCR and GE, LP 000 284 | Breast and Ovarian cancer (BRCA1 | ARMS PCR and GE, LP 000 284 | Other |
| Breast and Ovarian cancer (BRCA1 | DOC4335 | Breast and Ovarian cancer (BRCA1 | DOC4335 | Other |
| DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | Microsatellite analysis for LOH or | DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | Microsatellite analysis for LOH or | Other |
| DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | Mosaicism detection using ARMS | DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | Mosaicism detection using ARMS | Other |
| DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | PCR and GE, LP 000 069 | DNA from blood, FFPE tissue Neurofibromatosis type 2 (NF2; incl. | PCR and GE, LP 000 069 | Other |
| DNA from primary samples Mutation detection for the purpose | 017 including: | DNA from primary samples Mutation detection for the purpose | 017 including: | Other |
| DNA from primary samples Mutation detection for the purpose | DOC955 or | DNA from primary samples Mutation detection for the purpose | DOC955 or | Other |
| DNA from primary samples Mutation detection of sequence | NextSeq 550 or MiSeq and | DNA from primary samples Mutation detection of sequence | NextSeq 550 or MiSeq and | Other |
| DNA or RNA from blood or bone Quantitative monitoring of gene | Biosystems QuantStudio6 and | DNA or RNA from blood or bone Quantitative monitoring of gene | Biosystems QuantStudio6 and | Other |
| Detection of plasma and white cell | LS55 and LS30, DOC 578 and: | Detection of plasma and white cell | LS55 and LS30, DOC 578 and: | Other |
| Detection of the following gene | Biosystems 3730XL sequencer and | Detection of the following gene | Biosystems 3730XL sequencer and | Other |
| Glioma (MGMT hypermethylation | DOC3349, DOC869 | Glioma (MGMT hypermethylation | DOC3349, DOC869 | Other |
| LAL-D | DOC559 | LAL-D | DOC559 | Other |
| LAL-D | DOC570 | LAL-D | DOC570 | Other |
| Leucocytes NCL screen (neuronal ceroid | DOC2688, DOC2864 | Leucocytes NCL screen (neuronal ceroid | DOC2688, DOC2864 | Other |
| Leucocytes, CVS, cultured cells Acid esterase (liposomal acid | DOC630 | Leucocytes, CVS, cultured cells Acid esterase (liposomal acid | DOC630 | Other |
| Leucocytes, CVS, cultured cells Galactose-6-sulphatase (MPS IV A, | DOC2760 | Leucocytes, CVS, cultured cells Galactose-6-sulphatase (MPS IV A, | DOC2760 | Other |
| Leucocytes, CVS, cultured cells Heparan sulphamidase (MPS III A, | DOC577 | Leucocytes, CVS, cultured cells Heparan sulphamidase (MPS III A, | DOC577 | Other |
| Lynch Syndrome (HNPCC, familial | DOC4335 | Lynch Syndrome (HNPCC, familial | DOC4335 | Other |
| Malignant melanoma (BRAF, | DOC6047 | Malignant melanoma (BRAF, | DOC6047 | Other |
| Maroteaux-Lamy) | DOC948, DOC600 | Maroteaux-Lamy) | DOC948, DOC600 | Other |
| Maternal contamination testing | Biosystems 3500XL), analysis | Maternal contamination testing | Biosystems 3500XL), analysis | Other |
| Mutation detection for the purpose | 017 including: | Mutation detection for the purpose | 017 including: | Other |
| Mutation detection for the purpose | DOC955 or | Mutation detection for the purpose | DOC955 or | Other |
| NCL screen (neuronal ceroid | DOC2688, DOC2864 | NCL screen (neuronal ceroid | DOC2688, DOC2864 | Other |
| Plasma, cultured cells Multiple hydrolases (I-cell disease/ | DOC574 | Plasma, cultured cells Multiple hydrolases (I-cell disease/ | DOC574 | Other |
| Plasma, leucocytes, CVS, cultured Iduronate sulphatase (Hunter | DOC564 | Plasma, leucocytes, CVS, cultured Iduronate sulphatase (Hunter | DOC564 | Other |
| Plasma, leucocytes, CVS, cultured b-hexosaminidase A (Tay-Sachs | DOC573 | Plasma, leucocytes, CVS, cultured b-hexosaminidase A (Tay-Sachs | DOC573 | Other |
| Plasma, leucocytes, CVS, cultured b-mannosidase (beta | DOC 575, 603 | Plasma, leucocytes, CVS, cultured b-mannosidase (beta | DOC 575, 603 | Other |
| Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | 2760 | Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | 2760 | Other |
| Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | LS55 (or LS30), Biotek Synergy | Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | LS55 (or LS30), Biotek Synergy | Other |
| Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | Microplate reader, CECIL CE1011 | Plasma, leucocytes, cultured cells Multiple sulphatases (multiple | Microplate reader, CECIL CE1011 | Other |
| RNA from FFPE samples Glioma (KIAA1549: BRAF fusion, | DOC4253, DOC4344^, DOC4206 | RNA from FFPE samples Glioma (KIAA1549: BRAF fusion, | DOC4253, DOC4344^, DOC4206 | Other |
| Retinoblastoma (RB1) | Microsatellite analysis for LOH or | Retinoblastoma (RB1) | Microsatellite analysis for LOH or | Other |
| Schwannomatosis (LZTR1, | LP 000 249 | Schwannomatosis (LZTR1, | LP 000 249 | Other |
| Sphingomyelinase (Niemann Pick | DOC596 | Sphingomyelinase (Niemann Pick | DOC596 | Other |
| Urine Succinylacetone (to investigate | DOC688 | Urine Succinylacetone (to investigate | DOC688 | Other |
| cells Mannosidosis) | DOC633, DOC588 | cells Mannosidosis) | DOC633, DOC588 | Other |
| cells disease) | DOC574 | cells disease) | DOC574 | Other |
| disease) | DOC554 | disease) | DOC554 | Other |
| screen | DOC595 | screen | DOC595 | Other |
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